G29V (p.Gly29Val) variant of SMAD4 (SMAD family member 4)
G29V (p.Gly29Val) in SMAD4 (SMAD family member 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
G29V (p.Gly29Val) variant details
- p.Gly29Val
- Ensembl rs2144400817
- Uncertain significance
- Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predi
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- REVEL 0.64
- ESM-1b 1.00
- AlphaMissense 0.98
- MetaLR 0.60
- MetaSVM 0.23
- CADD 30.00
- ClinVar: Uncertain significance (Familial thoracic aortic aneurysm and aortic dissection; Heredit)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available